Canonical Allele Identifier: CA523275582

Gene: PCSK9

Linked Data

• dbSNP Id: rs1211313024
• gnomAD v2: 1-55525375-CTT-C
• gnomAD v3: 1-55059702-CTT-C
• gnomAD v4: 1-55059702-CTT-C
• MyVariant Identifiers: chr1:g.55525376_55525377del (hg19) ; chr1:g.55059703_55059704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059704_55059705del , CM000663.2:g.55059704_55059705del	GRCh38
NC_000001.10:g.55525377_55525378del , CM000663.1:g.55525377_55525378del	GRCh37
NC_000001.9:g.55297965_55297966del	NCBI36
NG_009061.1:g.25158_25159del , LRG_275:g.25158_25159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+41_1681+42del	ENSP00000501161.2:n.1681+41_1681+42del
ENST00000710286.1:c.2038+41_2038+42del	ENSP00000518176.1:n.2038+41_2038+42del
ENST00000673903.1:c.1306+41_1306+42del	ENSP00000501257.1:n.1306+41_1306+42del
ENST00000673913.1:c.421+41_421+42del	ENSP00000501161.1:n.421+41_421+42del
ENST00000302118.5:c.1681+41_1681+42del MANE Select	ENSP00000303208.5:n.1681+41_1681+42del
ENST00000490692.1:n.2227+1057_2227+1058del
NM_174936.3:c.1681+41_1681+42del , LRG_275t1:c.1681+41_1681+42del	NP_777596.2:n.1681+41_1681+42del
NR_110451.1:n.1288+41_1288+42del
XM_011541193.1:c.802+41_802+42del	XP_011539495.1:n.802+41_802+42del
NM_174936.4:c.1681+41_1681+42del MANE Select	NP_777596.2:n.1681+41_1681+42del
NR_110451.2:n.1288+41_1288+42del